DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER
多聚(RC)结合蛋白基因PCBP1的从头突变会导致神经发育障碍
期刊:
影响因子:
doi:10.64898/2025.12.11.25341975
Deb, Wallid; Besnard, Thomas; Desprez, Florence; Cogné, Benjamin; Do Souto Ferreira, Laura; Vignard, Virginie; Marouillat, Sylviane; Januel, Louis; Gorokhova, Svetlana; Busa, Tiffany; Morel, Victor; Dauriat, Benjamin; Desportes, Vincent; Slavotinek, Anne M; An, Yu; Lee, Hane; Hary, Jessy; Kannu, Peter; Athey, Taryn B; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Dickson, Patricia; Muir, Alison M; Buchert, Rebecca; Haack, Tobias B; Imort, Dominic; Sousa, Sérgio B; Xavier, Belinda; Almeida, Pedro M; Rogac, Mihael; Peterlin, Borut; Kaspar, Sophie; Netzer, Christian; Zempel, Hans; Towne, Meghan C; Ladda, Roger L; Sell, Susan S; Gawlinski, Pawel; Song, Xiaofei; Wiszniewski, Wojciech; Calame, Daniel G; Posey, Jennifer E; Ebstein, Frederic; Lupski, James R; Isidor, Bertrand; Bézieau, Stéphane; Laumonnier, Frédéric; Küry, Sébastien
